NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) AND not provided

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Jul 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000588855.25

Allele description [Variation Report for NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)]

NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)

Other names:

p.R1028H:CGT>CAT; 3202G>A; NP_009225.1:p.Arg1028His

HGVS:

NC_000017.11:g.43092448C>T
NG_005905.2:g.125536G>A
NM_001407571.1:c.2870G>A
NM_001407581.1:c.3083G>A
NM_001407582.1:c.3083G>A
NM_001407583.1:c.3083G>A
NM_001407585.1:c.3083G>A
NM_001407587.1:c.3080G>A
NM_001407590.1:c.3080G>A
NM_001407591.1:c.3080G>A
NM_001407593.1:c.3083G>A
NM_001407594.1:c.3083G>A
NM_001407596.1:c.3083G>A
NM_001407597.1:c.3083G>A
NM_001407598.1:c.3083G>A
NM_001407602.1:c.3083G>A
NM_001407603.1:c.3083G>A
NM_001407605.1:c.3083G>A
NM_001407610.1:c.3080G>A
NM_001407611.1:c.3080G>A
NM_001407612.1:c.3080G>A
NM_001407613.1:c.3080G>A
NM_001407614.1:c.3080G>A
NM_001407615.1:c.3080G>A
NM_001407616.1:c.3083G>A
NM_001407617.1:c.3083G>A
NM_001407618.1:c.3083G>A
NM_001407619.1:c.3083G>A
NM_001407620.1:c.3083G>A
NM_001407621.1:c.3083G>A
NM_001407622.1:c.3083G>A
NM_001407623.1:c.3083G>A
NM_001407624.1:c.3083G>A
NM_001407625.1:c.3083G>A
NM_001407626.1:c.3083G>A
NM_001407627.1:c.3080G>A
NM_001407628.1:c.3080G>A
NM_001407629.1:c.3080G>A
NM_001407630.1:c.3080G>A
NM_001407631.1:c.3080G>A
NM_001407632.1:c.3080G>A
NM_001407633.1:c.3080G>A
NM_001407634.1:c.3080G>A
NM_001407635.1:c.3080G>A
NM_001407636.1:c.3080G>A
NM_001407637.1:c.3080G>A
NM_001407638.1:c.3080G>A
NM_001407639.1:c.3083G>A
NM_001407640.1:c.3083G>A
NM_001407641.1:c.3083G>A
NM_001407642.1:c.3083G>A
NM_001407644.1:c.3080G>A
NM_001407645.1:c.3080G>A
NM_001407646.1:c.3074G>A
NM_001407647.1:c.3074G>A
NM_001407648.1:c.2960G>A
NM_001407649.1:c.2957G>A
NM_001407652.1:c.3083G>A
NM_001407653.1:c.3005G>A
NM_001407654.1:c.3005G>A
NM_001407655.1:c.3005G>A
NM_001407656.1:c.3005G>A
NM_001407657.1:c.3005G>A
NM_001407658.1:c.3005G>A
NM_001407659.1:c.3002G>A
NM_001407660.1:c.3002G>A
NM_001407661.1:c.3002G>A
NM_001407662.1:c.3002G>A
NM_001407663.1:c.3005G>A
NM_001407664.1:c.2960G>A
NM_001407665.1:c.2960G>A
NM_001407666.1:c.2960G>A
NM_001407667.1:c.2960G>A
NM_001407668.1:c.2960G>A
NM_001407669.1:c.2960G>A
NM_001407670.1:c.2957G>A
NM_001407671.1:c.2957G>A
NM_001407672.1:c.2957G>A
NM_001407673.1:c.2957G>A
NM_001407674.1:c.2960G>A
NM_001407675.1:c.2960G>A
NM_001407676.1:c.2960G>A
NM_001407677.1:c.2960G>A
NM_001407678.1:c.2960G>A
NM_001407679.1:c.2960G>A
NM_001407680.1:c.2960G>A
NM_001407681.1:c.2960G>A
NM_001407682.1:c.2960G>A
NM_001407683.1:c.2960G>A
NM_001407684.1:c.3083G>A
NM_001407685.1:c.2957G>A
NM_001407686.1:c.2957G>A
NM_001407687.1:c.2957G>A
NM_001407688.1:c.2957G>A
NM_001407689.1:c.2957G>A
NM_001407690.1:c.2957G>A
NM_001407691.1:c.2957G>A
NM_001407692.1:c.2942G>A
NM_001407694.1:c.2942G>A
NM_001407695.1:c.2942G>A
NM_001407696.1:c.2942G>A
NM_001407697.1:c.2942G>A
NM_001407698.1:c.2942G>A
NM_001407724.1:c.2942G>A
NM_001407725.1:c.2942G>A
NM_001407726.1:c.2942G>A
NM_001407727.1:c.2942G>A
NM_001407728.1:c.2942G>A
NM_001407729.1:c.2942G>A
NM_001407730.1:c.2942G>A
NM_001407731.1:c.2942G>A
NM_001407732.1:c.2942G>A
NM_001407733.1:c.2942G>A
NM_001407734.1:c.2942G>A
NM_001407735.1:c.2942G>A
NM_001407736.1:c.2942G>A
NM_001407737.1:c.2942G>A
NM_001407738.1:c.2942G>A
NM_001407739.1:c.2942G>A
NM_001407740.1:c.2939G>A
NM_001407741.1:c.2939G>A
NM_001407742.1:c.2939G>A
NM_001407743.1:c.2939G>A
NM_001407744.1:c.2939G>A
NM_001407745.1:c.2939G>A
NM_001407746.1:c.2939G>A
NM_001407747.1:c.2939G>A
NM_001407748.1:c.2939G>A
NM_001407749.1:c.2939G>A
NM_001407750.1:c.2942G>A
NM_001407751.1:c.2942G>A
NM_001407752.1:c.2942G>A
NM_001407838.1:c.2939G>A
NM_001407839.1:c.2939G>A
NM_001407841.1:c.2939G>A
NM_001407842.1:c.2939G>A
NM_001407843.1:c.2939G>A
NM_001407844.1:c.2939G>A
NM_001407845.1:c.2939G>A
NM_001407846.1:c.2939G>A
NM_001407847.1:c.2939G>A
NM_001407848.1:c.2939G>A
NM_001407849.1:c.2939G>A
NM_001407850.1:c.2942G>A
NM_001407851.1:c.2942G>A
NM_001407852.1:c.2942G>A
NM_001407853.1:c.2870G>A
NM_001407854.1:c.3083G>A
NM_001407858.1:c.3083G>A
NM_001407859.1:c.3083G>A
NM_001407860.1:c.3080G>A
NM_001407861.1:c.3080G>A
NM_001407862.1:c.2882G>A
NM_001407863.1:c.2960G>A
NM_001407874.1:c.2879G>A
NM_001407875.1:c.2879G>A
NM_001407879.1:c.2873G>A
NM_001407881.1:c.2873G>A
NM_001407882.1:c.2873G>A
NM_001407884.1:c.2873G>A
NM_001407885.1:c.2873G>A
NM_001407886.1:c.2873G>A
NM_001407887.1:c.2873G>A
NM_001407889.1:c.2873G>A
NM_001407894.1:c.2870G>A
NM_001407895.1:c.2870G>A
NM_001407896.1:c.2870G>A
NM_001407897.1:c.2870G>A
NM_001407898.1:c.2870G>A
NM_001407899.1:c.2870G>A
NM_001407900.1:c.2873G>A
NM_001407902.1:c.2873G>A
NM_001407904.1:c.2873G>A
NM_001407906.1:c.2873G>A
NM_001407907.1:c.2873G>A
NM_001407908.1:c.2873G>A
NM_001407909.1:c.2873G>A
NM_001407910.1:c.2873G>A
NM_001407915.1:c.2870G>A
NM_001407916.1:c.2870G>A
NM_001407917.1:c.2870G>A
NM_001407918.1:c.2870G>A
NM_001407919.1:c.2960G>A
NM_001407920.1:c.2819G>A
NM_001407921.1:c.2819G>A
NM_001407922.1:c.2819G>A
NM_001407923.1:c.2819G>A
NM_001407924.1:c.2819G>A
NM_001407925.1:c.2819G>A
NM_001407926.1:c.2819G>A
NM_001407927.1:c.2819G>A
NM_001407928.1:c.2819G>A
NM_001407929.1:c.2819G>A
NM_001407930.1:c.2816G>A
NM_001407931.1:c.2816G>A
NM_001407932.1:c.2816G>A
NM_001407933.1:c.2819G>A
NM_001407934.1:c.2816G>A
NM_001407935.1:c.2819G>A
NM_001407936.1:c.2816G>A
NM_001407937.1:c.2960G>A
NM_001407938.1:c.2960G>A
NM_001407939.1:c.2960G>A
NM_001407940.1:c.2957G>A
NM_001407941.1:c.2957G>A
NM_001407942.1:c.2942G>A
NM_001407943.1:c.2939G>A
NM_001407944.1:c.2942G>A
NM_001407945.1:c.2942G>A
NM_001407946.1:c.2750G>A
NM_001407947.1:c.2750G>A
NM_001407948.1:c.2750G>A
NM_001407949.1:c.2750G>A
NM_001407950.1:c.2750G>A
NM_001407951.1:c.2750G>A
NM_001407952.1:c.2750G>A
NM_001407953.1:c.2750G>A
NM_001407954.1:c.2747G>A
NM_001407955.1:c.2747G>A
NM_001407956.1:c.2747G>A
NM_001407957.1:c.2750G>A
NM_001407958.1:c.2747G>A
NM_001407959.1:c.2702G>A
NM_001407960.1:c.2702G>A
NM_001407962.1:c.2699G>A
NM_001407963.1:c.2702G>A
NM_001407964.1:c.2939G>A
NM_001407965.1:c.2579G>A
NM_001407966.1:c.2195G>A
NM_001407967.1:c.2195G>A
NM_001407968.1:c.788-309G>A
NM_001407969.1:c.788-309G>A
NM_001407970.1:c.788-1416G>A
NM_001407971.1:c.788-1416G>A
NM_001407972.1:c.785-1416G>A
NM_001407973.1:c.788-1416G>A
NM_001407974.1:c.788-1416G>A
NM_001407975.1:c.788-1416G>A
NM_001407976.1:c.788-1416G>A
NM_001407977.1:c.788-1416G>A
NM_001407978.1:c.788-1416G>A
NM_001407979.1:c.788-1416G>A
NM_001407980.1:c.788-1416G>A
NM_001407981.1:c.788-1416G>A
NM_001407982.1:c.788-1416G>A
NM_001407983.1:c.788-1416G>A
NM_001407984.1:c.785-1416G>A
NM_001407985.1:c.785-1416G>A
NM_001407986.1:c.785-1416G>A
NM_001407990.1:c.788-1416G>A
NM_001407991.1:c.785-1416G>A
NM_001407992.1:c.785-1416G>A
NM_001407993.1:c.788-1416G>A
NM_001408392.1:c.785-1416G>A
NM_001408396.1:c.785-1416G>A
NM_001408397.1:c.785-1416G>A
NM_001408398.1:c.785-1416G>A
NM_001408399.1:c.785-1416G>A
NM_001408400.1:c.785-1416G>A
NM_001408401.1:c.785-1416G>A
NM_001408402.1:c.785-1416G>A
NM_001408403.1:c.788-1416G>A
NM_001408404.1:c.788-1416G>A
NM_001408406.1:c.791-1425G>A
NM_001408407.1:c.785-1416G>A
NM_001408408.1:c.779-1416G>A
NM_001408409.1:c.710-1416G>A
NM_001408410.1:c.647-1416G>A
NM_001408411.1:c.710-1416G>A
NM_001408412.1:c.710-1416G>A
NM_001408413.1:c.707-1416G>A
NM_001408414.1:c.710-1416G>A
NM_001408415.1:c.710-1416G>A
NM_001408416.1:c.707-1416G>A
NM_001408418.1:c.671-1416G>A
NM_001408419.1:c.671-1416G>A
NM_001408420.1:c.671-1416G>A
NM_001408421.1:c.668-1416G>A
NM_001408422.1:c.671-1416G>A
NM_001408423.1:c.671-1416G>A
NM_001408424.1:c.668-1416G>A
NM_001408425.1:c.665-1416G>A
NM_001408426.1:c.665-1416G>A
NM_001408427.1:c.665-1416G>A
NM_001408428.1:c.665-1416G>A
NM_001408429.1:c.665-1416G>A
NM_001408430.1:c.665-1416G>A
NM_001408431.1:c.668-1416G>A
NM_001408432.1:c.662-1416G>A
NM_001408433.1:c.662-1416G>A
NM_001408434.1:c.662-1416G>A
NM_001408435.1:c.662-1416G>A
NM_001408436.1:c.665-1416G>A
NM_001408437.1:c.665-1416G>A
NM_001408438.1:c.665-1416G>A
NM_001408439.1:c.665-1416G>A
NM_001408440.1:c.665-1416G>A
NM_001408441.1:c.665-1416G>A
NM_001408442.1:c.665-1416G>A
NM_001408443.1:c.665-1416G>A
NM_001408444.1:c.665-1416G>A
NM_001408445.1:c.662-1416G>A
NM_001408446.1:c.662-1416G>A
NM_001408447.1:c.662-1416G>A
NM_001408448.1:c.662-1416G>A
NM_001408450.1:c.662-1416G>A
NM_001408451.1:c.653-1416G>A
NM_001408452.1:c.647-1416G>A
NM_001408453.1:c.647-1416G>A
NM_001408454.1:c.647-1416G>A
NM_001408455.1:c.647-1416G>A
NM_001408456.1:c.647-1416G>A
NM_001408457.1:c.647-1416G>A
NM_001408458.1:c.647-1416G>A
NM_001408459.1:c.647-1416G>A
NM_001408460.1:c.647-1416G>A
NM_001408461.1:c.647-1416G>A
NM_001408462.1:c.644-1416G>A
NM_001408463.1:c.644-1416G>A
NM_001408464.1:c.644-1416G>A
NM_001408465.1:c.644-1416G>A
NM_001408466.1:c.647-1416G>A
NM_001408467.1:c.647-1416G>A
NM_001408468.1:c.644-1416G>A
NM_001408469.1:c.647-1416G>A
NM_001408470.1:c.644-1416G>A
NM_001408472.1:c.788-1416G>A
NM_001408473.1:c.785-1416G>A
NM_001408474.1:c.587-1416G>A
NM_001408475.1:c.584-1416G>A
NM_001408476.1:c.587-1416G>A
NM_001408478.1:c.578-1416G>A
NM_001408479.1:c.578-1416G>A
NM_001408480.1:c.578-1416G>A
NM_001408481.1:c.578-1416G>A
NM_001408482.1:c.578-1416G>A
NM_001408483.1:c.578-1416G>A
NM_001408484.1:c.578-1416G>A
NM_001408485.1:c.578-1416G>A
NM_001408489.1:c.578-1416G>A
NM_001408490.1:c.575-1416G>A
NM_001408491.1:c.575-1416G>A
NM_001408492.1:c.578-1416G>A
NM_001408493.1:c.575-1416G>A
NM_001408494.1:c.548-1416G>A
NM_001408495.1:c.545-1416G>A
NM_001408496.1:c.524-1416G>A
NM_001408497.1:c.524-1416G>A
NM_001408498.1:c.524-1416G>A
NM_001408499.1:c.524-1416G>A
NM_001408500.1:c.524-1416G>A
NM_001408501.1:c.524-1416G>A
NM_001408502.1:c.455-1416G>A
NM_001408503.1:c.521-1416G>A
NM_001408504.1:c.521-1416G>A
NM_001408505.1:c.521-1416G>A
NM_001408506.1:c.461-1416G>A
NM_001408507.1:c.461-1416G>A
NM_001408508.1:c.452-1416G>A
NM_001408509.1:c.452-1416G>A
NM_001408510.1:c.407-1416G>A
NM_001408511.1:c.404-1416G>A
NM_001408512.1:c.284-1416G>A
NM_001408513.1:c.578-1416G>A
NM_001408514.1:c.578-1416G>A
NM_007294.4:c.3083G>AMANE SELECT
NM_007297.4:c.2942G>A
NM_007298.4:c.788-1416G>A
NM_007299.4:c.788-1416G>A
NM_007300.4:c.3083G>A
NP_001394500.1:p.Arg957His
NP_001394510.1:p.Arg1028His
NP_001394511.1:p.Arg1028His
NP_001394512.1:p.Arg1028His
NP_001394514.1:p.Arg1028His
NP_001394516.1:p.Arg1027His
NP_001394519.1:p.Arg1027His
NP_001394520.1:p.Arg1027His
NP_001394522.1:p.Arg1028His
NP_001394523.1:p.Arg1028His
NP_001394525.1:p.Arg1028His
NP_001394526.1:p.Arg1028His
NP_001394527.1:p.Arg1028His
NP_001394531.1:p.Arg1028His
NP_001394532.1:p.Arg1028His
NP_001394534.1:p.Arg1028His
NP_001394539.1:p.Arg1027His
NP_001394540.1:p.Arg1027His
NP_001394541.1:p.Arg1027His
NP_001394542.1:p.Arg1027His
NP_001394543.1:p.Arg1027His
NP_001394544.1:p.Arg1027His
NP_001394545.1:p.Arg1028His
NP_001394546.1:p.Arg1028His
NP_001394547.1:p.Arg1028His
NP_001394548.1:p.Arg1028His
NP_001394549.1:p.Arg1028His
NP_001394550.1:p.Arg1028His
NP_001394551.1:p.Arg1028His
NP_001394552.1:p.Arg1028His
NP_001394553.1:p.Arg1028His
NP_001394554.1:p.Arg1028His
NP_001394555.1:p.Arg1028His
NP_001394556.1:p.Arg1027His
NP_001394557.1:p.Arg1027His
NP_001394558.1:p.Arg1027His
NP_001394559.1:p.Arg1027His
NP_001394560.1:p.Arg1027His
NP_001394561.1:p.Arg1027His
NP_001394562.1:p.Arg1027His
NP_001394563.1:p.Arg1027His
NP_001394564.1:p.Arg1027His
NP_001394565.1:p.Arg1027His
NP_001394566.1:p.Arg1027His
NP_001394567.1:p.Arg1027His
NP_001394568.1:p.Arg1028His
NP_001394569.1:p.Arg1028His
NP_001394570.1:p.Arg1028His
NP_001394571.1:p.Arg1028His
NP_001394573.1:p.Arg1027His
NP_001394574.1:p.Arg1027His
NP_001394575.1:p.Arg1025His
NP_001394576.1:p.Arg1025His
NP_001394577.1:p.Arg987His
NP_001394578.1:p.Arg986His
NP_001394581.1:p.Arg1028His
NP_001394582.1:p.Arg1002His
NP_001394583.1:p.Arg1002His
NP_001394584.1:p.Arg1002His
NP_001394585.1:p.Arg1002His
NP_001394586.1:p.Arg1002His
NP_001394587.1:p.Arg1002His
NP_001394588.1:p.Arg1001His
NP_001394589.1:p.Arg1001His
NP_001394590.1:p.Arg1001His
NP_001394591.1:p.Arg1001His
NP_001394592.1:p.Arg1002His
NP_001394593.1:p.Arg987His
NP_001394594.1:p.Arg987His
NP_001394595.1:p.Arg987His
NP_001394596.1:p.Arg987His
NP_001394597.1:p.Arg987His
NP_001394598.1:p.Arg987His
NP_001394599.1:p.Arg986His
NP_001394600.1:p.Arg986His
NP_001394601.1:p.Arg986His
NP_001394602.1:p.Arg986His
NP_001394603.1:p.Arg987His
NP_001394604.1:p.Arg987His
NP_001394605.1:p.Arg987His
NP_001394606.1:p.Arg987His
NP_001394607.1:p.Arg987His
NP_001394608.1:p.Arg987His
NP_001394609.1:p.Arg987His
NP_001394610.1:p.Arg987His
NP_001394611.1:p.Arg987His
NP_001394612.1:p.Arg987His
NP_001394613.1:p.Arg1028His
NP_001394614.1:p.Arg986His
NP_001394615.1:p.Arg986His
NP_001394616.1:p.Arg986His
NP_001394617.1:p.Arg986His
NP_001394618.1:p.Arg986His
NP_001394619.1:p.Arg986His
NP_001394620.1:p.Arg986His
NP_001394621.1:p.Arg981His
NP_001394623.1:p.Arg981His
NP_001394624.1:p.Arg981His
NP_001394625.1:p.Arg981His
NP_001394626.1:p.Arg981His
NP_001394627.1:p.Arg981His
NP_001394653.1:p.Arg981His
NP_001394654.1:p.Arg981His
NP_001394655.1:p.Arg981His
NP_001394656.1:p.Arg981His
NP_001394657.1:p.Arg981His
NP_001394658.1:p.Arg981His
NP_001394659.1:p.Arg981His
NP_001394660.1:p.Arg981His
NP_001394661.1:p.Arg981His
NP_001394662.1:p.Arg981His
NP_001394663.1:p.Arg981His
NP_001394664.1:p.Arg981His
NP_001394665.1:p.Arg981His
NP_001394666.1:p.Arg981His
NP_001394667.1:p.Arg981His
NP_001394668.1:p.Arg981His
NP_001394669.1:p.Arg980His
NP_001394670.1:p.Arg980His
NP_001394671.1:p.Arg980His
NP_001394672.1:p.Arg980His
NP_001394673.1:p.Arg980His
NP_001394674.1:p.Arg980His
NP_001394675.1:p.Arg980His
NP_001394676.1:p.Arg980His
NP_001394677.1:p.Arg980His
NP_001394678.1:p.Arg980His
NP_001394679.1:p.Arg981His
NP_001394680.1:p.Arg981His
NP_001394681.1:p.Arg981His
NP_001394767.1:p.Arg980His
NP_001394768.1:p.Arg980His
NP_001394770.1:p.Arg980His
NP_001394771.1:p.Arg980His
NP_001394772.1:p.Arg980His
NP_001394773.1:p.Arg980His
NP_001394774.1:p.Arg980His
NP_001394775.1:p.Arg980His
NP_001394776.1:p.Arg980His
NP_001394777.1:p.Arg980His
NP_001394778.1:p.Arg980His
NP_001394779.1:p.Arg981His
NP_001394780.1:p.Arg981His
NP_001394781.1:p.Arg981His
NP_001394782.1:p.Arg957His
NP_001394783.1:p.Arg1028His
NP_001394787.1:p.Arg1028His
NP_001394788.1:p.Arg1028His
NP_001394789.1:p.Arg1027His
NP_001394790.1:p.Arg1027His
NP_001394791.1:p.Arg961His
NP_001394792.1:p.Arg987His
NP_001394803.1:p.Arg960His
NP_001394804.1:p.Arg960His
NP_001394808.1:p.Arg958His
NP_001394810.1:p.Arg958His
NP_001394811.1:p.Arg958His
NP_001394813.1:p.Arg958His
NP_001394814.1:p.Arg958His
NP_001394815.1:p.Arg958His
NP_001394816.1:p.Arg958His
NP_001394818.1:p.Arg958His
NP_001394823.1:p.Arg957His
NP_001394824.1:p.Arg957His
NP_001394825.1:p.Arg957His
NP_001394826.1:p.Arg957His
NP_001394827.1:p.Arg957His
NP_001394828.1:p.Arg957His
NP_001394829.1:p.Arg958His
NP_001394831.1:p.Arg958His
NP_001394833.1:p.Arg958His
NP_001394835.1:p.Arg958His
NP_001394836.1:p.Arg958His
NP_001394837.1:p.Arg958His
NP_001394838.1:p.Arg958His
NP_001394839.1:p.Arg958His
NP_001394844.1:p.Arg957His
NP_001394845.1:p.Arg957His
NP_001394846.1:p.Arg957His
NP_001394847.1:p.Arg957His
NP_001394848.1:p.Arg987His
NP_001394849.1:p.Arg940His
NP_001394850.1:p.Arg940His
NP_001394851.1:p.Arg940His
NP_001394852.1:p.Arg940His
NP_001394853.1:p.Arg940His
NP_001394854.1:p.Arg940His
NP_001394855.1:p.Arg940His
NP_001394856.1:p.Arg940His
NP_001394857.1:p.Arg940His
NP_001394858.1:p.Arg940His
NP_001394859.1:p.Arg939His
NP_001394860.1:p.Arg939His
NP_001394861.1:p.Arg939His
NP_001394862.1:p.Arg940His
NP_001394863.1:p.Arg939His
NP_001394864.1:p.Arg940His
NP_001394865.1:p.Arg939His
NP_001394866.1:p.Arg987His
NP_001394867.1:p.Arg987His
NP_001394868.1:p.Arg987His
NP_001394869.1:p.Arg986His
NP_001394870.1:p.Arg986His
NP_001394871.1:p.Arg981His
NP_001394872.1:p.Arg980His
NP_001394873.1:p.Arg981His
NP_001394874.1:p.Arg981His
NP_001394875.1:p.Arg917His
NP_001394876.1:p.Arg917His
NP_001394877.1:p.Arg917His
NP_001394878.1:p.Arg917His
NP_001394879.1:p.Arg917His
NP_001394880.1:p.Arg917His
NP_001394881.1:p.Arg917His
NP_001394882.1:p.Arg917His
NP_001394883.1:p.Arg916His
NP_001394884.1:p.Arg916His
NP_001394885.1:p.Arg916His
NP_001394886.1:p.Arg917His
NP_001394887.1:p.Arg916His
NP_001394888.1:p.Arg901His
NP_001394889.1:p.Arg901His
NP_001394891.1:p.Arg900His
NP_001394892.1:p.Arg901His
NP_001394893.1:p.Arg980His
NP_001394894.1:p.Arg860His
NP_001394895.1:p.Arg732His
NP_001394896.1:p.Arg732His
NP_009225.1:p.Arg1028His
NP_009225.1:p.Arg1028His
NP_009228.2:p.Arg981His
NP_009231.2:p.Arg1028His
LRG_292t1:c.3083G>A
LRG_292:g.125536G>A
LRG_292p1:p.Arg1028His
NC_000017.10:g.41244465C>T
NM_007294.3:c.3083G>A
NM_007300.3:c.3083G>A
NR_027676.1:n.3219G>A
U14680.1:n.3202G>A
p.R1028H

Protein change:

R1001H

Links:

BRCA1-HCI: BRCA1_00075; dbSNP: rs80357459

NCBI 1000 Genomes Browser:

rs80357459

Molecular consequence:

NM_001407968.1:c.788-309G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-309G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1425G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1416G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3074G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3080G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2882G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2870G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2816G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2816G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2816G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2816G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2819G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2816G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2957G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2702G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2702G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2699G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2702G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2195G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2195G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

DAD1 [Otolemur garnettii]
DAD1 [Otolemur garnettii]
Gene ID:100956353

Gene
HEXD [Chlamydotis macqueenii]
HEXD [Chlamydotis macqueenii]
Gene ID:104486895

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108664	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 26, 2020)	germline	clinical testing	Citation Link,
SCV000699002	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Mar 24, 2016)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 16267036, 15235020, 21990134, 22753008, 10699917, 22476429, 17924331, 24728327 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV000806928	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 11, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001471659	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Likely benign (Nov 6, 2019)	germline	clinical testing	Citation Link,
SCV005093414	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2024)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

PubMed [citation]

PMID:: 15235020
PMCID:: PMC1735826

See all PubMed Citations (9)

Details of each submission

From GeneDx, SCV000108664.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 24728327, 28717660, 28364669, 9333265, 26689913, 21990134, 15235020, 16267036, 22366370, 17924331, 10699917, 22753008)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699002.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

Variant summary: The variant of interest causes a missense change involving a non-conserved nucleotide with 3/4 in silico programs predicting a "benign" outcome (SNPs&GO not captured here due to low reliability index). The variant of interest was observed in a large, broad control population, ExAC with an overall allele frequency of 21/121360 (1/5780), however, the variant is predominantly observed in the Latino population with an allele frequency of 19/11576 (1/609), which exceeds the maximum expected allele frequency for a pathogenic BRCA1 variant of 1/1000. Therefore, suggesting that the variant of interest is a common polymorphism specifically found in population(s) of Latino origin. In addition, the variant of interest has been found in affected individuals, with limited co-occurrence and co-segregation information but has been observed to co-occur with another BRCA1 variant, c.5165C>T (p.Ser1722Phe), which was previously classified as VUS-possibly pathogenic and with a pathogenic BRCA2 variant c.771_775delTCAAA p.Asn257_Arg259fs indicating neutrality. Furthermore, the variant of interest has been classified by multiple reputable databases and clinical laboratories via ClinVar, along with publications, Easton_2007 and Lindor_2012, all which classify the variant as "neutral/likely neutral." Therefore, taking all available lines of evidence, the variant of interest is classified as Benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000806928.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471659.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV005093414.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

BRCA1: BP4, BS1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine